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ONTOLOGY REPORT - ANNOTATIONS


Term:altered regulatory pathway
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Accession:PW:0000263 term browser browse the term
Definition:Those regulatory pathways that deviate from what their normal course should be. Aberrant regulatory pathways, alone or in combination with other pathways underlie many conditions, disorders and/or diseases.


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altered androgen signaling pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:2326139
RGD:8693397
G Ncoa2 nuclear receptor coactivator 2 JBrowse link 5 5,466,544 5,696,540 RGD:8693397
G Ncor2 nuclear receptor co-repressor 2 JBrowse link 12 36,871,917 37,033,701 RGD:8693397
altered citric acid cycle pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:6907135
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:6907134
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:6907134
altered clathrin-dependent synaptic vesicle endocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 JBrowse link 5 120,330,372 120,492,515 RGD:10450553
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:10450553
altered DNA modification pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase JBrowse link 4 147,744,673 147,756,462 RGD:9588971
altered energy homeostasis pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:61790
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:61790
G Mc4r melanocortin 4 receptor JBrowse link 18 62,612,838 62,614,725 RGD:1357925
G Pcsk1 proprotein convertase subtilisin/kexin type 1 JBrowse link 2 91,450,162 91,497,091 RGD:1357926
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:1357925
altered G1/S transition pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:5490966
altered hypoxia inducible factor pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:6907133
altered insulin responsive facilitative sugar transporter mediated glucose transport pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt2 AKT serine/threonine kinase 2 JBrowse link 1 84,400,939 84,451,223 RGD:7248543
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:7248544
altered insulin secretion pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:2313628
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 JBrowse link 1 102,103,093 102,107,134 RGD:2313610
RGD:2313628
altered insulin signaling pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:2313694
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:2313694
altered leptin system pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:2290473
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:61790
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:61790
RGD:1600611
G Lepr_v2 leptin receptor, variant 2 RGD:2290292
altered melanocortin system pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agrp agouti related neuropeptide JBrowse link 19 37,525,941 37,584,875 RGD:1357925
G Mc4r melanocortin 4 receptor JBrowse link 18 62,612,838 62,614,725 RGD:1357925
G Pcsk1 proprotein convertase subtilisin/kexin type 1 JBrowse link 2 91,450,162 91,497,091 RGD:1357926
RGD:1357925
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:1357925
RGD:1357926
G Sdc1 syndecan 1 JBrowse link 6 33,885,576 33,908,038 RGD:1357925
altered mismatch repair pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:2306714
RGD:4143515
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:2306714
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:2306714
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:2306714
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:2306714
altered mitochondrial autophagy pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pink1 PTEN induced kinase 1 JBrowse link 5 156,677,146 156,689,258 RGD:10450527
G Prkn parkin RBR E3 ubiquitin protein ligase JBrowse link 1 48,880,015 50,069,998 RGD:10450527
altered nucleotide excision repair pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb1 damage-specific DNA binding protein 1 JBrowse link 1 226,657,561 226,683,356 RGD:7246919
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7246919
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:7246919
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7246919
RGD:9588971
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:7246919
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7246919
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7246919
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:7246919
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:7246919
altered p53 signaling pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ets1 ETS proto-oncogene 1, transcription factor JBrowse link 8 33,756,634 33,879,625 RGD:8663430
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:2316186
RGD:8663434
G Mdm4 MDM4 regulator of p53 JBrowse link 13 49,786,776 49,828,780 RGD:8663434
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8663431
G Nfya nuclear transcription factor Y subunit alpha JBrowse link 9 14,551,752 14,577,002 RGD:8663431
RGD:8663430
G Nfyb nuclear transcription factor Y subunit beta JBrowse link 7 27,081,667 27,097,481 RGD:8663431
RGD:8663430
G Nfyc nuclear transcription factor Y subunit gamma JBrowse link 5 139,687,442 139,760,154 RGD:8663431
RGD:8663430
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 JBrowse link 8 21,669,236 21,680,615 RGD:8663430
G Srebf2 sterol regulatory element binding transcription factor 2 JBrowse link 7 123,381,082 123,438,605 RGD:8663431
RGD:8663430
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:2316186
RGD:8693397
RGD:8663430
RGD:8663431
RGD:5490966
RGD:5133242
RGD:4143515
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:8663431
RGD:8663430
G Tp73 tumor protein p73 JBrowse link 5 171,355,876 171,415,354 RGD:8663431
RGD:8663430
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8663430
altered retinoid cycle metabolic pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8547536
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:8547536
G Rbp3 retinol binding protein 3 JBrowse link 16 10,277,775 10,286,243 RGD:8547536
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:8547536
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:8547536
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:8547536
altered retromer-mediated pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 JBrowse link 8 112,697,907 112,830,445 RGD:10450845
G Vps35 VPS35 retromer complex component JBrowse link 19 27,464,937 27,500,636 RGD:10450542
RGD:10450845
altered reverse cholesterol transport pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca1 ATP binding cassette subfamily A member 1 JBrowse link 5 69,857,717 69,983,042 RGD:1600951
altered surfactant homeostasis pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca3 ATP binding cassette subfamily A member 3 JBrowse link 10 13,723,365 13,780,558 RGD:1549859
altered SWI/SNF family mediated chromatin remodeling pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8694154
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8694154
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8694154
G Pbrm1 polybromo 1 JBrowse link 16 7,103,714 7,202,899 RGD:8694154
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8694154
altered ubiquitin/proteasome degradation pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:1302872
G Uba1y ubiquitin-activating enzyme, Chr Y JBrowse link Y 422,819 445,477 RGD:1302873
G Ube2d3 ubiquitin-conjugating enzyme E2D 3 JBrowse link 2 240,626,198 240,655,874 RGD:1302873
G Ube2d4 ubiquitin-conjugating enzyme E2D 4 (putative) JBrowse link 14 2,933,097 2,934,571 RGD:1302873
G Ube2g1 ubiquitin-conjugating enzyme E2G 1 JBrowse link 10 59,173,268 59,254,458 RGD:1302873
G Ube2i ubiquitin-conjugating enzyme E2I JBrowse link 10 14,618,615 14,639,274 RGD:1302873
G Ube2n ubiquitin-conjugating enzyme E2N JBrowse link 7 36,610,147 36,640,190 RGD:1302873
altered vascular endothelial growth factor signaling pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flt4 Fms related receptor tyrosine kinase 4 JBrowse link 10 35,078,782 35,120,296 RGD:1334463
altered vascular endothelial growth factor signaling pathway involving proteins affecting its expression term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:2292019
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:2292019
altered vascular endothelial growth factor signaling pathway involving the main players term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flt4 Fms related receptor tyrosine kinase 4 JBrowse link 10 35,078,782 35,120,296 RGD:1334463
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:2292019
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:2292019

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.